A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812319



Internal ID9868541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36232591..36232736hg38UCSC Ensembl
Outerchr13:36806728..36806873hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747263, esv2747265
Supporting Variants
SamplesSSM076
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6812319
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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